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    DDRGK1 DDRGK domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 65992, updated on 4-Jan-2025

    Summary

    Official Symbol
    DDRGK1provided by HGNC
    Official Full Name
    DDRGK domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:16110
    See related
    Ensembl:ENSG00000198171 MIM:616177; AllianceGenome:HGNC:16110
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UFBP1; SEMDSH; C20orf116; dJ1187M17.3
    Summary
    The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 21.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See DDRGK1 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3190350..3204682, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (3221281..3235633, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3170996..3185328, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12614 Neighboring gene uncharacterized LOC107985414 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:3163335-3163502 Neighboring gene leucine zipper tumor suppressor family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3183418-3184016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:3189739-3190387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3210499-3211281 Neighboring gene inosine triphosphatase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12617 Neighboring gene solute carrier family 4 member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3228779-3229524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3229525-3230269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3230929-3231429 Neighboring gene dynein axonemal assembly factor 9 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3276431-3276932

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (99 hits/1275 screens)

    Associated conditions

    Description Tests
    Spondyloepimetaphyseal dysplasia, Shohat type
    MedGen: C1865185 OMIM: 602557 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identified ITPA/DDRGK1 variants reflecting thrombocytopenia in pegylated interferon and ribavirin therapy for chronic hepatitis C.
    EBI GWAS Catalog
    ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of Japanese HCV virus patients.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • MGC2592

    Gene Ontology Provided by GOA

    Items 1 - 25 of 34
    Process Evidence Code Pubs
    involved_in cartilage development  
    involved_in cartilage development PubMed 
    involved_in negative regulation of IRE1-mediated unfolded protein response  
    involved_in negative regulation of IRE1-mediated unfolded protein response PubMed 
    involved_in negative regulation of PERK-mediated unfolded protein response  
    involved_in negative regulation of apoptotic process  
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process PubMed 
    involved_in positive regulation of I-kappaB phosphorylation PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity PubMed 
    involved_in positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding PubMed 
    involved_in positive regulation of cell cycle G1/S phase transition PubMed 
    involved_in positive regulation of cell migration PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of metallopeptidase activity PubMed 
    involved_in positive regulation of plasma cell differentiation  
    involved_in positive regulation of proteasomal protein catabolic process PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process PubMed 
    involved_in positive regulation of protein localization to endoplasmic reticulum  
    involved_in positive regulation of proteolysis involved in protein catabolic process PubMed 
    involved_in positive regulation of reticulophagy PubMed 
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in protein K69-linked ufmylation PubMed 
    involved_in protein localization to endoplasmic reticulum PubMed 
    involved_in protein ufmylation PubMed 
    involved_in protein ufmylation PubMed 
    involved_in regulation of intracellular estrogen receptor signaling pathway PubMed 
    involved_in regulation of protein stability PubMed 
    involved_in rescue of stalled ribosome PubMed 
    involved_in response to endoplasmic reticulum stress PubMed 
    involved_in response to endoplasmic reticulum stress  
    involved_in reticulophagy PubMed 
    involved_in ribosome disassembly PubMed 
    Items 1 - 25 of 34
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in endoplasmic reticulum PubMed 
    is_active_in endoplasmic reticulum membrane PubMed 
    located_in endoplasmic reticulum membrane PubMed 
    located_in nucleolus  

    General protein information

    Preferred Names
    DDRGK domain-containing protein 1
    Names
    Dashurin
    UFM1-binding and PCI domain-containing protein 1
    UFM1-binding protein 1 containing a PCI domain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_023935.3 → NP_076424.1  DDRGK domain-containing protein 1

      See identical proteins and their annotated locations for NP_076424.1

      Status: REVIEWED

      Source sequence(s)
      BC000643, CB305409, HY128886
      Consensus CDS
      CCDS13050.1
      UniProtKB/Swiss-Prot
      A6NIU5, C9JSZ5, Q96HY6, Q9BW47
      Related
      ENSP00000346483.3, ENST00000354488.8
      Conserved Domains (1) summary
      pfam09756
      Location:115 → 302
      DDRGK; DDRGK domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      3190350..3204682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      3221281..3235633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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